Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family

Abstract

X-linked juvenile retinoschisis (XLRS) is an X-linked hereditary retinal dystrophy characterized by splitting of the neurosensory retina. On fundus examination, the macula often has a spoke wheel appearance with foveal cystic lesions, and separation of the retinal layers is typical on spectral-domain optical coherence tomography (SD-OCT). Patients with XLRS can exhibit different clinical courses, stages, and SD-OCT findings, even among members of the same family. SD-OCT is an important imaging method that allows us to achieve more detailed information about XLRS. In this study, we report three patients in the same family who have different clinical features and SD-OCT findings.

Keywords

• Hereditary retinal dystrophy
• spectral-domain optical coherence tomography
• X-linked juvenile retinoschisis